<abstract xmlns="http://www.w3.org/1999/xhtml"><p> We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior- Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive manner, has a prevalence of one in a million, and is caused by variations in CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1 and WDR19 genes. Clinical diagnosis is based on kidney (urine analysis, abdominal ultrasound, kidney function) and eye assessment (visual acuity test, fundus examination, refraction defects, color testing and electroretinography). The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.</p></abstract>

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior- Loken syndrome (SLSN). SLSN is inherited in an autosomal recessive manner, has a prevalence of one in a million, and is caused by variations in CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1 and WDR19 genes. Clinical diagnosis is based on kidney (urine analysis, abdominal ultrasound, kidney function) and eye assessment (visual acuity test, fundus examination, refraction defects, color testing and electroretinography). The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Genetic testing for Senior-Loken syndrome

The EuroBiotech Journal

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Genetic testing for Senior-Loken syndrome"}

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Senior- Loken syndrome (SLSN)....

Genetic testing for Senior-Loken syndrome

Data publikacji: 27 paź 2017

Zakres stron: 99 - 101

DOI: https://doi.org/10.24190/ISSN2564-615X/2017/S1.31

© 2018

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.